Research & Innovation
Publications
Pompe disease in Austria: clinical, genetic and epidemiological aspects.
PMU Authors
Florian Lagler, Susanne Grinzinger
All Authors
W N Löscher, M. Huemer, T M Stulnig, P. Simschitz, S. Iglseder, C. Eggers, H. Moser, D. Möslinger, M. Freilinger, Florian Lagler, Susanne Grinzinger, M. Reichhardt, R E Bittner, W M Schmidt, U. Lex, M. Brunner-Krainz, S. Quasthoff, J V Wanschitz
Journal association
JOURNAL OF NEUROLOGY
Abstract
Keywords
FEATURES, COHORT, PHENOTYPE, DIAGNOSIS, HYPERCKEMIA, NATIONWIDE, ENZYME REPLACEMENT THERAPY, SPECTRUM, ACID MALTASE DEFICIENCY